Title: | Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS |
Journal : | Neurology. Genetics, 1, 2 |
Authors: | Tian X, Author ; Liang WC ; Feng Y ; Wang J ; Zhang VW ; Chou CH ; Huang HD ; Lam CW ; Hsu YY ; Lin TS ; Chen WT ; Wong LJ ; Jong YJ |
Material Type: | Article |
Publication Date: | 2015 |
Languages: | English |
Keywords : | diagnosis ; gene identification ; genetic deletions ; genetic diagnosis ; genetic mutations ; muscle biopsies ; neuromuscular disease ; sequencing |
Pubmed / DOI : | DOI : 10.1212/NXG.0000000000000015 / Pubmed : 27066551 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27066551 |